Marinus Duran

Best Publications

• Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

  S. M. Houten;W. Kuis;M. Duran;T. J. De Koning

  563
  Citations

• Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review

  M. F. B. Silva;C. C. P. Aires;P. B. M. Luis;J. P. N. Ruiter

  458
  Citations

• X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

  Peter G. Barth;Fredoen Valianpour;Valerie M. Bowen;Jan Lam

  318
  Citations

• Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

  Annet M. Bosch;Nico G. G. M. Abeling;Lodewijk IJlst;Hennie Knoester

  283
  Citations

• Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

  Hans R. Waterham;Frits A. Wijburg;Raoul C.M. Hennekam;Peter Vreken

  281
  Citations

• Clinical and biochemical spectrum of D-bifunctional protein deficiency.

  Sacha Ferdinandusse;Simone Denis;Petra A. W. Mooyer;Conny Dekker

  197
  Citations

• 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

  Rob Ofman;Jos P. N. Ruiter;Marike Feenstra;Marinus Duran

  196
  Citations

• Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

  Bianca T. van Maldegem;Marinus Duran;Ronald J. A. Wanders;Klary E. Niezen-Koning

  150
  Citations

• Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

  Pedro Brites;Alison M Motley;Pierre Gressens;Petra A W Mooyer

  145
  Citations

• Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: A meta-analysis

  Wendela P. Hoen;Jeroen G. Lijmer;Marinus Duran;Ronald J.A. Wanders

  139
  Citations

• MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

  A. M. Bams-Mengerink;C. B.L.M. Majoie;M. Duran;R.J.A. Wanders

  119
  Citations

• Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

  Saskia B. Wortmann;Marinus Duran;Yair Anikster;Peter G. Barth

  118
  Citations

• Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

  Bwee Tien Poll-The;Jeannette Gootjes;Marinus Duran;Johannis B.C. de Klerk

  115
  Citations

• D-2-Hydroxyglutaric aciduria: Further clinical delineation

  M. S. van der Knaap;C. Jakobs;G. F. Hoffmann;M. Duran

  113
  Citations

• Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

  T J de Koning;M Duran;L Dorland;R Gooskens

  109
  Citations

• Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

  Unknown

  105
  Citations

• Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

  Ference J. Loupatty;Peter T. Clayton;Jos P.N. Ruiter;Rob Ofman

  105
  Citations

• 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

  Lodewijk IJlst;Ference J. Loupatty;Jos P.N. Ruiter;Marinus Duran

  99
  Citations

• Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.

  Levinus A. Bok;Peter Vreken;Frits A. Wijburg;Ronald J. A. Wanders

  97
  Citations

• Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite.

  Maarten R. Soeters;Mireille J. Serlie;Hans P. Sauerwein;Marinus Duran

  93
  Citations